Effects of the main derivatives of vitmain D in 3 siblings with "pseudo-deficiency" rickets
Dommergues, J.P.; Garabedian, M.; Gueris, J.; Le Deunff, M.J.; Creignou, L.; Courtecuisse, V.; Balsan, S.
Archives Francaises de Pediatrie 35(10): 1050-1062
1978
ISSN/ISBN: 0003-9764 PMID: 219799 Document Number: 131039
Three siblings, respectively 20, 16 and 12 years old, presented with hypocalcemic vitamin D resistant rickets (Prader's type). Their clinical history included several periods of spontaneous cessation of therapy, with severe relapses. Since 1973, treatment was strictly observed, allowing to test the therapeutic effects of 25 OH D3, 1-25 (OH) 2 D3 and 1-alpha (OH) D3. The clinical effects are reported as well as biochemical data. Among them, an inactive form of hyperparathyroidism is emphasized, which may resemble some cases of pseudohypoparathyroidism. Simultaneous resistance to exogenous PTE was also demonstraded.